P44L (p.Pro44Leu) variant of SERPINC1 (Antithrombin-III)
P44L (p.Pro44Leu) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- gnomAD rs1291914956
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.76
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available